Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): A possible locus for Fryns syndrome

✍ Scribed by S. Kantarci; D. Casavant; C. Prada; M. Russell; J. Byrne; L. Wilkins Haug; R. Jennings; S. Manning; T.K. Boyd; J.P. Fryns; L.B. Holmes; P.K. Donahoe; C. Lee; V. Kimonis; B.R. Pober

• Publisher: John Wiley and Sons
• Year: 2005
• Tongue: English
• Weight: 259 KB
• Volume: 140A
• Category: Article
• ISSN: 1552-4825
• DOI: 10.1002/ajmg.a.31025

✦ Synopsis

Abstract

Congenital diaphragmatic hernia (CDH) is a common and often devastating birth defect that can occur in isolation or as part of a malformation complex. Considerable progress is being made in the identification of genetic causes of CDH. We applied array‐based comparative genomic hybridization (aCGH) of ∼1Mb resolution to 29 CDH patients with prior normal karyotypes who had been recruited into our multi‐site study. One patient, clinically diagnosed with Fryns syndrome, demonstrated a de novo 5Mb deletion at chromosome region 1q41–q42.12 that was confirmed by FISH. Given prior reports of CDH in association with cytogenetic abnormalities in this region, we propose that this represents a locus for Fryns syndrome, a Fryns syndrome phenocopy, or CDH. © 2005 Wiley‐Liss, Inc.